• Gene id: 514

Gene Summary

• Gene Symbol: ATP5F1E   Gene   UCSC   Ensembl
• Aliases: ATP5E, ATPE, MC5DN3
• Gene name: ATP synthase F1 subunit epsilon
• Alternate names: ATP synthase subunit epsilon, mitochondrial, ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit, F(0)F(1)-ATPase, H(+)-transporting two-sector ATPase, mitochondrial ATP synthase epsilon chain, mitochondrial ATPase,
• Gene location: 20q13.32 (59032334: 59025474)     Exons: 3     NC_000020.11
• Gene summary(Entrez): This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two lin
• OMIM: 606153

Protein Summary

• Protein general information: P56381  
  • Name: ATP synthase subunit epsilon, mitochondrial (ATPase subunit epsilon) (ATP synthase F1 subunit epsilon)
  • Length: 51  
  • Mass: 5780
  • Tissue specificity: Ubiquitous.
• Sequence:

  MVAYWRQAGLSYIRYSQICAKAVRDALKTEFKANAEKTSGSNVKIVKVKKE

• Structural information:
  • Interpro: IPR006721  IPR036742  
  • CDD: cd12153
  • STRING: ENSP00000243997
• Other Databases: GeneCards:  ATP5F1E  Malacards:  ATP5F1E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000275	mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)	IMP	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0016887	ATPase activity	IBA	contributes to
GO:0000275	mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)	IEA	cellular component
GO:0015986	ATP synthesis coupled proton transport	IEA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IEA	molecular function
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0045261	proton-transporting ATP synthase complex, catalytic core F(1)	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005753	mitochondrial proton-transporting ATP synthase complex	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0042407	cristae formation	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IDA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IDA	contributes to

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
ATP synthase deficiency	KEGG:H01369
ATP synthase deficiency	KEGG:H01369
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881